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This case presents a facially mature patient with Beckwith-Wiedemann Syndrome (BWS) who presented with severe class III malocclusion. Computed tomography imaging revealed an anterior crossbite of 19 mm and a narrow pharyngeal airway at the level of the tongue base precluding mandibular setback surgery. The patient was indicated for a LeFort III combined with a LeFort I advancement, each of 10 mm, for a 20 mm combined advancement. Stable, functional occlusion was achieved without airway compromise. This novel use of the combined LeFort III/I can restore stable class I occlusion in patients with BWS at risk for tongue base airway compromise.

We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre- and post-natal intra-familial variability. Our first encounter with the family occurred in the 1990s following the birth of 3 affected offspring. The first two pregnancies presented with exomphalos and elevated second trimester maternal serum alpha-fetoprotein (msAFP, 3.43 and 4.01 MOM, respectively) as well as elevated maternal human chorionic gonadotrophin (mhCG, 4.33 and 8.8 MOM, respectively). The diagnosis of BWS was confirmed postnatally in both cases. The third ongoing pregnancy presented only with elevated mhCG (7.09 MOM) and no malformation. Nonetheless BWS was suspected. The diagnosis was confirmed postnatally with clinical manifestations including macroglossia and cleft palate. Two affected female siblings were also diagnosed with Mullerian agenesis in adulthood. Suspecting a common genetic etiology, sequencing of the CDKN1C gene revealed a maternally inherited, likely pathogenic variant (NM_000076.2: c.367_385del; p.(Ala123Serfs*143)) causative of BWS. Chromosomal microarray and whole exome sequencing did not reveal any other pathogenic variant that would explain the Mullerian agenesis. One of the affected females underwent successful preimplantation genetic testing (PGT) with a surrogate and gave birth to a healthy female. To the best of our knowledge, this is the first report of Mullerian agenesis as a possible rare expansion of the BWS phenotype. In addition, this case highlights the potential role of abnormal second trimester biochemical markers (msAFP, mHCG) as possible indicators of BWS, especially in familial cases., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Purpose: Prenatal occurrence and timing of appearance of associated features in Beckwith-Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings., Methods: All BWS patients with fetal ultrasound (US) or magnetic resonance imaging (MRI) from 2000 to 2016 were reviewed to determine the presence of polyhydramnios, placentamegaly, macrosomia, macroglossia, retrognathia, omphalocele, visceromegaly, and hemihypertrophy. These observations were correlated with postnatal findings. Data were analyzed by Mann-Whitney U test., Results: Nine BWS patients underwent 42 fetal imaging studies with median of five (range of two to six) studies per patient between 13 and 35 weeks gestation. All prenatal findings were confirmed postnatally with complete concordance. All patients with omphalocele were detected early in gestation but other postnatal findings less predictably so. All omphaloceles were small, and were found significantly earlier in gestation than macrosomia (P = 0.004) and macroglossia (P = 0.012). Visceromegaly and retrognathia were less frequent, with no significant differences in median gestational age from omphalocele when prenatally identified., Conclusions: In BWS, omphalocele is the most common prenatal finding and routinely observed in early gestation with 100% accuracy. Associated findings of macrosomia, macroglossia, visceromegaly, and retrognathia, when present, are detected later in gestation. Imaging in later gestation may reveal additional abnormalities that support a BWS diagnosis., (© 2019 John Wiley & Sons, Ltd.)

Background: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder. A major feature is lateralized overgrowth, which can variably involve a single body district up to the entire hemisome. Visceral asymmetrical involvement has been observed, commonly represented by enlargement of one kidney or adrenal gland, rather than one gonad., Case Presentation: We report the case of a pubertal boy affected by BWS, who developed a progressive testicular enlargement, ipsilateral to the pre-existing external body overgrowth. Asymptomatic unilateral testis enlargement started after regular pubertal onset and worsened over time, without any associated pathological findings in a long-term follow-up. Since biopsy is not indicated in case of benign macro-orchidism, we hypothesize that this asymmetric enlargement could be an expression of visceral lateralized overgrowth in BWS., Conclusions: At the best of our knowledge, this is the first detailed report of unilateral testicular overgrowth in BWS. We revised common causes of painless unilateral scrotal masses in the pediatric age. Considering both the overall frequency of neoplasia and the malignancies predisposition in BWS, a testicular cancer should be carefully ruled out through a close follow-up, before stating a benign condition. A normal ultrasound pattern, together with normal serum hormonal levels and negative tumor markers, make testicular neoplasms highly unlikely.

Objective: To carry out a clinical and morphological analysis of 6 cases of placental mesenchymal dysplasia (PMD) that is not associated with Beckwith-Wiedemann syndrome., Material and Methods: Medical records, placental macroscopic and microscopic changes, histochemical (MSB staining) and immunohistochemical studies of placental tissue with antibodies against p57, CD34, smooth muscle actin, desmin, and Ki-67 were analyzed., Results: Vascular anomalies in the chorionic plate and stem villi, the increased size and edema of the stem villi during normal formation of the terminal branches of the villous tree, the lack of proliferation of villous trophoblast were the typical signs of PMD and were noted in all cases. Comparison of the results of ultrasonography with the morphological pattern of the disease suggested that there were ultrasound signs that were typical of PMD. The characteristics of the course and outcomes of pregnancy in PMD were given. The features of morphological changes in the presence of PMD concurrent with preeclampsia were found. Significant variability in p57 expression in PMD was shown and variants of changes given. There were no substantial features of the expression of desmin and smooth muscle actin in PMD., Conclusion: MDP has typical morphological and ultrasound signs. The significant variability in the levels of chorionic gonadotropin and alpha-fetoprotein and in the expression of p57 does not allow their use in the differential diagnosis of PMD. The high incidence of thrombotic events in the intervillous space and fetal vessels, as well as intrauterine growth restriction, intrauterine hypoxia, and an impaired neonatal adaptation period in PMD should be taken into account when determining the management tactics for female patients and newborns.

Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries. There were 15 (4.0%) terminations of pregnancy after prenatal detection of severe anomaly/anomalies, 10 fetal deaths (2.7%), and 346 (93.3%) live-births. Twelve (3.6%) of the 330 live-births with available information on survival died in the first week of life, of those eleven (91.6%) were preterm. First-year survival rate was 90.9%. Prematurity was present in 40.6% of males and 33.9% of females. Macrosomia was found in 49.2% and 43.3% of preterm males and females, respectively. Of term newborns, 41.1% of males and 24% of females were macrosomic. Out of 353 cases with known time of diagnosis, 39.9% were suspected prenatally, 36.3% at birth, 7.6% were diagnosed in the first week of life, and 16.2% in the first year of life. The mean gestational age at prenatal diagnosis by obstetric ultrasound was 19.8 ± 6.2 (11-39) gestational weeks. The mean prenatal diagnosis of cases where parents opted for termination of pregnancy was 15.3 ± 2.4 (11-22) gestational weeks, and the mean gestational age at termination was 19.3 ± 4.1 (13-26) gestational weeks. The prenatal detection rate was 64.1% (141/220) with no significant change over time. There were 12.7% of familial cases. The study confirmed the association of assisted reproductive technologies with Beckwith Wiedemann syndrome, as 7.2% (13/181) of patients were conceived by one of the methods of assisted reproductive technologies, which was three times higher compared to the general population of the countries included in the study. Twin pregnancies of undetermined zygosity were recorded in 5.7% (21/365) cases, and were on average three to four times more common than in European countries that participated in the study. The estimated mean prevalence of classical Beckwith Wiedemann syndrome in Europe was 3.8 per 100,000 births or 1:26,000 births., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia. The BWS predisposes affected individuals to embryonal tumors during childhood. The BWS is caused by abnormal gene regulation in a particular region of chromosome 11. We present the case of a 1-year-old boy with BWS who underwent an F-FDG PET/CT scan for restaging of hepatoblastoma. On the F-FDG PET scan, increased tracer accumulation was observed in hepatoblastoma lesions. In addition, marked hemihyperplasia was noted. This case highlights the usefulness of F-FDG PET/CT for restaging of hepatoblastoma in BWS.

Purpose: Ectopic adrenal cortical adenoma in the spinal region is extremely rare. The majority of cases of ectopic adrenocortical tissue are found along the path of embryonic migration within the urogenital tract. Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development, including adrenal lesions. To date, only eight spinal cases have been reported. This is the third reported case in pediatric population, the first one associated with genetic syndrome and the first benign to recur. We review the current literature on this topic., Case Description: We present a 2-year-old boy affected by Beckwith-Wiedemann syndrome who developed a tumor at L4-L5 level. He underwent a gross total resection with MRI post-surgery demonstrating non-residual tumor. Histology disclosed an ectopic adrenal cortical adenoma with oncocytic features. Immunohistochemically was positive for inhibin-alpha, synaptophysin, and melan-A. It was negative for chromogranin A, GFAP, S-100, and other markers. One year later, he developed a recurrence at the same level being necessary a second surgery leaving a small sheet of residual tumor., Conclusion: Spinal adrenocortical adenomas are exceptional, and its behavior could be related to other conditions such as BWS. Gross total resection can be curative but a tight follow-up is needed. Immunohistochemical studies that include inhibin-alpha, synaptophysin, and melan-A can be useful in differential diagnosis as ultrastructural study. The decision on how to treat these patients is difficult given the low number of cases.

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes macrosomia, macroglossia, and omphalocele, nephrourological findings are commonly associated with BWS. Clinical presentation is highly variable because of its complex molecular heterogeneity, which involves changes in DNA methylation and disruption of growth regulatory genes. We report 3 pediatric patients, ages 13 months to 3 years old, who presented with clinical features consistent with BWS. A variety of nephrourological abnormalities were also noted, including posterior urethral valves, hydroureteronephrosis, and undescended testes. Genetic testing for all 3 patients revealed duplication of the region chromosome 11p15.5., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Competing Interests: Conflicts of Interest: None declared.

Objectives: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after birth. Patients with BWS have an increased risk of neonatal hypoglycemia and embryonal tumors development in childhood. We wanted to identify the ultrasound signs that must alert physicians to prepare best perinatal management strategies., Methods: We conducted a retrospective study of a population of 14 cases of BWS diagnosed in perinatal period; four of them were detected prenatally by ultrasound. The anomalies signs described in prenatal were analyzed and compared with the clinical features of the postnatal period., Results: The major features reported were represented by macrosomia for 71.4% with an increase of abdominal circumference, and macroglossia for 78.6%. The minor features were various with 64% of visceromegaly (nephromegaly and/or hepatomegaly), 50% of hydramnios and for 80% of male children a genital anomaly (crytorchidism and/or hypospadias)., Conclusion: This study identified some prenatal ultrasound signs that should alert the clinician to the possibility of BWS. A genetic conseling, after confirmation by molecular diagnosis, could be proposed in a near future in prenatal, and could improve postnatal management strategies for these affected children at high postnatal risk., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Objective: The objective of the study was to examine the prenatal anomalies in fetuses with Beckwith-Wiedemann syndrome (BWS)., Methods: The study included a retrospective assessment of 12 pregnancies that were seen at three tertiary referral centres (Universities of Tübingen, Bonn, and Cologne/Germany). The genetic mutation, the results of the second trimester ultrasound examination, and the outcome of the pregnancies are shown. Biometric data were transformed into z-values., Results: Median gestational age at the time of examination was 22.6 (range 19.0-29.7) weeks of gestation. In all cases, the head circumference (HC) and the femur length (FL) were within the normal range, but the HC-FL ratio was above the 95th centile in 75% of the cases. An exomphalos, macroglossia, and visceromegaly were observed in 67%, 50%, and 83% of the cases, and in 58% and 83%, there were polyhydramnios and placentamegaly respectively. The fetal pancreas was identified in three quarters of the cases. A third of the women had large, overstimulation-like ovaries, although each pregnancy was conceived naturally. In four cases, beta-human chorionic gonadotropin (hCG) levels were measured and mean hCG levels were 498 106 IU/L., Discussion: Besides exomphalos, BWS should be considered if there is macroglossia, a distinct growth pattern, pancreatic hyperplasia, placentamegaly, and substantially increased levels of beta-hCG. © 2015 John Wiley & Sons, Ltd., (© 2015 John Wiley & Sons, Ltd.)

Objective: We report prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemann syndrome (BWS) in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer., Case Report: A 34-year-old, primigravid woman was referred to the hospital at 21 weeks' gestation because of advanced maternal age and an isolated omphalocele in the fetus. Her husband had the fertility problem of oligospermia. This pregnancy was achieved by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer. Prenatal ultrasound revealed a 2.1 cm × 1.6 cm isolated omphalocele. The woman underwent amniocentesis. Array comparative genomic hybridization and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were applied to the DNA extracted from the uncultured amniocytes. Conventional cytogenetic analysis and high-resolution melting analysis were performed on cultured amniocytes. Array comparative genomic hybridization revealed no genomic imbalance. MS-MLPA analysis revealed H19DMR(IC1) normal methylation and KvDMR1(IC2) hypomethylation. Conventional cytogenetic analysis revealed a karyotype of 46,XX. High-resolution melting analysis using a methylation-specific polymerase chain reaction assay confirmed normal methylation at H19DMR(IC1) and hypomethylation at KvDMR1(IC2). The altered methylation status at 11p15.5 and the phenotype of omphalocele were consistent with the diagnosis of BWS., Conclusion: In case of prenatally detected omphalocele associated with an obstetric history of assisted reproductive technology, a differential diagnosis of BWS should be considered. Methylation assays such as MS-MLPA and methylation-specific polymerase chain reaction using uncultured amniocytes are useful for rapid diagnosis of BWS under such circumstances., (Copyright © 2014. Published by Elsevier B.V.)

Objective: To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy., Methods: We reviewed PMD cases from our institution and performed a systematic review of the existing literature. Inclusion criteria for the review were diagnosis of PMD as defined by placental pathology, description of placental morphology on antenatal ultrasound and reporting of pregnancy outcomes., Results: We found three cases of PMD at our institution. Patient 1 had elevated human chorionic gonadotropin (hCG) and an enlarged, hydropic placenta at 13 weeks, suggestive of a molar pregnancy. Patient 2 also had elevated hCG with large, vascular placental lakes on ultrasound suggesting placenta accreta or molar pregnancy. Case 3 involved placentomegaly and fetal anomalies suggestive of Beckwith-Wiedemann syndrome. From the literature review, 61 cases met the inclusion criteria. The most common sonographic features included enlarged (50%) and cystic (80%) placenta with dilated chorionic vessels. Biochemical aneuploidy screening abnormalities were relatively common as were fetal anomalies, Beckwith-Wiedemann syndrome and other genetic abnormalities. Pregnancy complications included intrauterine growth restriction (IUGR; 33%), intrauterine fetal death (IUFD; 13%), and preterm labor (33%). Pregnancies without fetal anomalies, IUGR, IUFD or preterm labor had normal neonatal outcomes despite PMD (9%)., Conclusions: The differential diagnosis of PMD includes molar pregnancy and other placental vascular anomalies. PMD is associated with adverse pregnancy outcome, so heightened surveillance with genetic evaluation, serial growth scans and third-trimester assessment of wellbeing should be considered. PMD must be differentiated from gestational trophoblastic disease because management and outcomes differ., (Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.)

Beckwith-Wiedemann syndrome (BWS) is a common overgrowth syndrome that involves abdominal wall defects, macroglossia, and gigantism. It is sometimes complicated by placental tumor and polyhydramnios. We report a case of BWS, prenatally diagnosed with ultrasonography. A large and well-circumscribed tumor also existed on the fetal surface of the placenta, which was histologically diagnosed as chorangioma after delivery. Polyhydramnios was obvious and the fetal heart enlarged progressively during pregnancy. Because the biophysical profiling score dropped to 4 points at 33 weeks of gestation, we carried out cesarean section. By epigenetic analysis, H19-differentially methylated region hypermethylation was observed in the placental tumor, normal placental tissue, and cord blood mononuclear cells. This is the first report of BWS with placental tumor due to H19-differentially methylated region hypermethylation., (© 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.)

Beckwith-Wiedemann syndrome (BWS) and isolated hemihyperplasia (IHH) are two well known overgrowth conditions that are associated with cancer predisposition. Multiple surveillance protocols have been proposed to detect the most commonly reported tumor types Wilms tumor and hepatoblastoma. We reviewed the history of our patients who were part of this monitoring protocol. Information from 63 cases was collected retrospectively while another 63 control samples for AFP measurement were obtained prospectively. Twenty-five (40%) patients had an ultrasound abnormality, the most frequent being nephromegaly/size discrepancy. Two patients had well documented cases of tumors/tumor precursor (2/63:3.2%) detected by ultrasound images. Three hundred thirty-six separate AFP values were available with values above 50,000 ng/ml seen in three patients older than 2 months, one with hepatoblastoma and two other with hemangiomas/hemangioendotheliomas. There was no clear difference in the range of AFP values between previously reported controls, our own normal population and affected patients. In conclusion, ultrasound surveillance detected renal and liver pathology including benign and malignant lesions. The known variability of AFP in normal neonates and patients with BWS makes interpretation difficult in early infancy. Very high AFP values did seem to be correlated with risk for identifiable liver lesions. Determination of the natural changes in AFP levels over time will allow more appropriate comparison., (2009 Wiley-Liss, Inc.)

This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. Antenatal diagnosis of exomphalos in association with postnatal transient hypoglycemia and macroglossia formed the basis of the diagnosis of BWS. Primary hypothyroidism was detected on routine Guthrie card examination. Molecular DNA analysis demonstrated biparental inheritance of chromosome 11p15.5. Dosage analysis of differently methylated region showed evidence of loss of maternal methylation at KvDMR1.

Background: Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls., Objective: The purpose of our study was to generate a nomogram that could be used to measure renal dimensions in children with Beckwith-Wiedemann syndrome in a clinical setting., Materials & Methods: All of the Beckwith-Wiedemann syndrome patients followed at our institution from 1996 to 2004 were eligible for inclusion in our study. Renal length was measured with a curvilinear transducer and with the patient supine. Renal lengths were measured for both kidneys using real-time ultrasound for all patients. Their data were compared with those of age-matched controls reported in the 1984 study by Rosenbaum et al., Results: Ninety-six children with Beckwith-Wiedemann syndrome were followed from 1996 to 2004. Forty-three of these patients met our criteria for inclusion in the study: 28 girls (65%) and 15 boys (35%). We identified a linear relationship between kidney length and patient age. No statistically significant differences in renal length were found between boys and girls (p=0.2153) or between the kidneys on either side of the body (p=0.9613)., Conclusion: Our study provides a practical, simple renal growth chart that offers a reasonable, sensitive method for evaluating kidney size in children with Beckwith-Wiedemann syndrome.

Objective: To assess the frequency of Beckwith-Wiedemann syndrome (BWS) among fetuses with an ultrasound diagnosis of isolated omphalocele and to examine relevant clinical variables, in particular route of conception., Materials and Methods: An ultrasound and consultation database (1988-2007) was searched and cases were included that met the following criteria: omphalocele, no additional major structural anomaly or autosomal aneuploidy, and either newborn examination or molecular diagnostic studies for BWS. Medical records were reviewed and a nested case-control analysis matching day of birth assessed the route of conception, given the changing prevalence of assisted reproduction during the study period., Results: Thirty cases of isolated omphalocele were identified. Beckwith-Wiedemann syndrome was diagnosed in six cases (6/30 [20.0%]); four by newborn examination (4/6) and two on prenatal molecular studies (2/6). Of note, one case of BWS had a karyotype of 47,XXX, the remainder was euploid. Compared with isolated omphaloceles, fetuses with BWS more often were twins (3/6 vs. 1/24; p < 0.001), had polyhydramnios (4/6 vs. 2/24; p < 0.001), were macrosomic at birth (3/6 vs. 4/24 p < 0.001), and had been conceived by assisted reproduction (3/6 vs. 2/22; p = 0.04). When compared with normal controls matched by date of birth, conception by assisted reproductive technique among BWS births was highly significant, (p < 0001)., Conclusions: Beckwith-Wiedemann syndrome is present in a noteworthy portion of fetuses with isolated omphalocele on ultrasound, and prenatal molecular studies are warranted. Even among this small cohort, a recurring theme of conception by assisted reproduction exists.

Aim of the Study: The aim of the study was to analyze prenatally recognized cases of Beckwith-Wiedemann syndrome (BWS) and further follow-up. We report the most common features which can help in prenatal diagnosing of that condition., Material and Methods: 3 fetuses diagnosed with BWS, referred for echocardiographic evaluation had been examined in referral centre from 2003-2005., Results: Mean gestational age at the diagnosis was 31 week. During ultrasound evaluation characteristic features were recognized: macrosomy, macroglossia, nephromegaly in all cases, polyhydramnion was associated in 2 cases. No congenital heart defect and any functional changes were found during ECHO. In one case prenatal karyotyping was performed and revealed normal karyotype. Postnatal karyotyping in remain two cases was normal in one and abnormal in second case (Moz 46XX (13/46XX-18, +MAR5)., Conclusions: 1. Prenatal diagnosis of Beckwith-Wiedemann syndrome can be obtained based on characteristic ultrasound features in the third trimester. 2. Most common features of BWS diagnosed in prenatal ultrasound included: macrosomy, macroglossia, visceromegaly and polyhydramnios. 3. In utero diagnosis is important for further mode and time of delivery planning, also neonates' clinical condition directly after delivery and long-term postnatal prognosis. 4. Karyotyping is recommened in all cases of BWS.

Beckwith-Wiedemann syndrome is characterized by a group of clinical abnormalities, the most frequent of which are omphalocele, macroglossia, gigantism, neonatal hypoglycemia and umbilical hernia. The association of this syndrome with malignant tumors is well documented. We report a child with this syndrome associated with bilateral adrenal pheochromocytoma.

Benign hemorrhagic adrenal cysts are a cause of subdiaphragmatic mass in the fetus and neonate with Beckwith-Wiedemann syndrome. Characteristic imaging features on ultrasonography, color Doppler, and magnetic resonance imaging help differentiate adrenal hemorrhage from neonatal neuroblastoma and help avoid unnecessary surgery in these patients. Bilateral adrenal hemorrhage is self-limiting, and spontaneous resolution is the usual outcome. This report presents this rare condition with prenatal ultrasonographic and magnetic resonance imaging findings and reviews the differential diagnosis of neonatal adrenal masses.

Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema., Methods: Published reports obtained from Medline searches were reviewed and combined with our cases., Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS., Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies., (Copyright 2005 John Wiley & Sons, Ltd.)

We report a case of a right-sided cystic adrenal mass, detected after the 21st week of gestation, associated with fetal macrosomia. The diagnosis of Beckwith-Wiedemann syndrome was evoked. Prenatal sonography and magnetic resonance imaging did not allow establishing the origin of the suprarenal mass. The differential diagnosis of cystic neuroblastoma, pseudocystic adrenal haemorrhage, and adrenocortical macrocysts was discussed. A laparotomy was performed 2 weeks after birth due to the increasing size of the tumour and due to its possible malignant origin. Histological findings were haemorrhagic lesions without evidence of malignancy and adrenal cortical cytomegaly. The diagnosis of an adrenocortical macrocyst component of Beckwith-Wiedemann syndrome was established., (2004 S. Karger AG, Basel.)

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with congenital malformations and tumour predisposition. BWS results from variable mutations or epigenetic modifications of imprinted genes in the 11p15 chromosomal region. We present a fetus with mild general overgrowth and bilateral enlarged echogenic kidneys with loss of the corticomedullary differentiation in which prenatal diagnosis of BWS was suspected. The rest of the fetal anatomy and the amniotic fluid volume appeared normal. After termination of the pregnancy, molecular analysis confirmed the diagnosis of BWS by showing an isolated hypermethylation of the H19 gene., (Copyright 2004 John Wiley & Sons, Ltd.)

Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, omphalocele and ear lobe anomalies. Among the associated adrenal anomalies, foetal cortical cytomegaly, outer cortical haemorrhage and unilateral benign cysts are well described. A term neonate was admitted with typical features of the syndrome. Radiological evaluation revealed a rare association of bilateral benign hamorrhagic adrenal cysts. Serial sonography confirmed hamorrhage into benign cysts and ruled out neoplasms. Only one similar case has been documented in the literature previously.

Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith-Wiedemann syndrome. Prenatal and post-natal features and management of this very rare tumour are discussed. Molecular investigation disclosed a mosaic paternal 11p15 uniparental disomy in the tumoral cells. The prognosis of a congenital pancreatoblastoma is good if complete surgical excision is achieved. However, the association with Beckwith-Wiedemann syndrome requires a prolonged follow-up because of the increased risk of developing malignant tumours., (Copyright 2003 John Wiley & Sons, Ltd.)

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome characterized by anterior abdominal wall defects, macroglossia, and gigantism. A variety of other abnormalities have been described, however association with ectopic spleen and left-sided vena cava has not been reported previously. We report ectopic spleen, left-sided vena cava and the other abdominal imaging findings of an adult BWS case who came up to date without any follow-up from the early childhood.

We describe three unrelated cases of Wiedemann-Beckwith syndrome (WBS). Two of them were diagnosed postnatally while the third was detected during pregnancy that resulted in elective termination. Amniotic karyotypes were normal in all. PCR amplification of polymorphic loci mapping to 11p15.5 region documented partial trisomy of 11p15.5 due to paternal translocation in one, and segmental and mosaic segmental unipaternal disomy (UPD) in the second and third cases, respectively. Based on findings documented in these cases and the literature, we tabulated the anomalies that might be detected prenatally by ultrasound and that may suggest the syndrome. Constant findings included fetal overgrowth, polyhydramios, enlarged placenta, and specifically a distended abdomen. As most described signs developed after 22 weeks of gestation, a careful follow-up should be carried on until late stages of pregnancy. An amniotic karyotype might not detect subtle chromosomal rearrangements. We therefore recommend utilizing PCR of polymorphic loci on 11p15.5, in addition to conventional cytogenetic analysis of the fetus and both parents to detect possible maternal deletions or inversions, paternal duplications, and UPD that may account for the largest subset of sporadic WBS reaching 25% of cases. An early diagnosis of WBS is important for counseling the parents concerning potential risk for developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, and prevention of neonatal hypoglycemia., (Copyright 2001 Wiley-Liss, Inc.)

Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery., (Copyright 2001 John Wiley & Sons, Inc.)

Background: We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which parameters would be most important to assess if a screening trial were initiated., Procedures: We used data from the BWS registry at the National Cancer Institute, the National Wilms Tumor Study (NWTS), and large published series to model events for two hypothetical cohorts of 1,000 infants born with BWS. One hypothetical cohort was screened for cancer until a predetermined age, representing the base case. The other cohort was unscreened. For our base case, we assumed: (a) sonography examinations three times yearly (triannually) from birth until 7 years of age; (b) screening would result in one stage shift downward at diagnosis for Wilms tumor and hepatoblastoma; (c) 100% sensitivity and 95% specificity for detecting clinical stage I Wilms tumor and hepatoblastoma; (d) a 3% discount rate; (e) a false positive result cost of $402. We estimated mortality rates based on published Wilms tumor and hepatoblastoma stage specific survival., Results: Using the base case, screening a child with BWS from birth until 4 years of age results in a cost per life year saved of $9,642 while continuing until 7 years of age results in a cost per life-year saved of $14,740. When variables such as cost of screening examination, discount rate, and effectiveness of screening were varied based on high and low estimates, the incremental cost per life-year saved for screening up until age four remained comparable to acceptable population based cancer screening ranges (< $50,000 per life year saved)., Conclusions: Under our model's assumptions, abdominal sonography examinations in children with BWS represent a reasonable strategy for a cancer screening program. A cancer screening trial is warranted to determine if, when, and how often children with BWS should be screened and to determine cost-effectiveness in clinical practice., (Published 2001 Wiley-Liss, Inc.)

Introduction To The Series Genetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some characteristics are unique and can be detected with echocardiography. Drs Alizad and Seward have compiled in this series a review of genetic disorders that have recognizable morphologic and/or functional cardiovascular abnormalities. The following topics will be explored, with examples from the database of the Mayo Clinic Echocardiography Laboratory:Cardiomyopathy Storage disease Shunts Connective tissue Tumors Complex cardiovascular defects Complex genetic disorders Organ system

Abdominal wall defects include a broad spectrum of structural malformations with variable severity and prognosis. The purpose of prenatal ultrasound examination is to correctly diagnose and classify these malformations according to their localization (particularly their relation to the umbilical cord insertion), their contents, their size and associated malformations or karyotypic abnormalities. Based on this examination, two groups can be distinguished: gastroschisis or omphalocele (when the latter is isolated, in particular without karyotypic abnormalities) which can be surgically corrected at birth, and for which predictive criteria of outcome must be evaluated (vitality of herniated bowel, size and contents of omphalocele); severe malformations (ectopia cordis, cloacal exstrophy, Beckwith-Wiedemann syndrome, short umbilical cord, amniotic band syndrome) for which pregnancy termination could be proposed.

Objective: To assess intrauterine growth in a series of nine fetuses diagnosed with Beckwith-Wiedemann syndrome., Methods: Infants confirmed postnatally to have Beckwith-Wiedemann syndrome were identified from records maintained in the Division of Clinical Genetics. Antenatal ultrasound and birth records were evaluated. Head circumference (HC), abdominal circumference (AC), and estimated fetal weight (EFW) were assigned percentiles based on gestational age. Newborn HC and birth weight were also assigned percentiles. Polyhydramnios was diagnosed using either amniotic fluid index or documented subjective assessment., Results: Nine infants with Beckwith-Wiedemann syndrome had antenatal ultrasound examinations. Seven of these had more than one examination. Two infants were suspected to have Beckwith-Wiedemann syndrome in utero. Important ultrasound findings included omphalocele (four), enlarged liver and kidneys (one), and enlarged liver (one). Fetal tongue protrusion on ultrasound was not identified in any fetus. Six of nine fetuses (66%) with ultrasound examinations after 25 weeks' gestation had polyhydramnios. Evaluation of the fetal HC, AC, and EFW percentiles demonstrated that fetuses with Beckwith-Wiedemann syndrome may exhibit accelerated growth as early as 25-30 weeks' gestation, but may exceed the 90th percentile only after 36 weeks' gestation., Conclusions: Fetuses with omphalocele, polyhydramnios, and an AC less than the 90th percentile may have Beckwith-Wiedemann syndrome. Polyhydramnios and accelerated growth beginning between 25 and 36 weeks' gestation, even without omphalocele, should alert the physician to the possibility of Beckwith-Wiedemann syndrome.

We report a case of congenital pancreatic cyst detected prenatally by ultrasound in a fetus with evidence for a diagnosis of Beckwith-Wiedemann syndrome (BWS). Neonatal hypoglycaemia was prevented. The cyst was managed by internal drainage. This is the second reported case of BWS associated with pancreatic cystic dysplasia and the first time that this association has been detected prenatally. Differential diagnosis of cystic abdominal lesions occurring in utero should take pancreatic cysts into consideration. This case suggests that pancreatic cysts should be included in the BWS phenotype.

This report describes two new cases of BWS. This diagnosis of BWS may be missed because of variable or incomplete clinical expression. Recognition of such patients is important, however, because they have the potential for development of neoplasias. There also appears to be an increased risk of malignancies associated with hemihypertrophy and BWS.

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

A case of a neonate with Beckwith-Wiedemann syndrome is presented. Antenatal sonography detected a right adrenal cystic mass confirmed in post-natal which resolved spontaneously within 1 month. The child developed an adrenal adenoma detected by abdominal sonography at six months of surveillance. The authors review the different adrenal lesions possibly associated with Beckwith-Wiedemann syndrome and specially the pseudo-tumorous lesions. The value of abdominal sonography in the neonatal periods and in the surveillance of children with Beckwith-Wiedemann syndrome is emphasized.